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Science Signaling|July 7, 2021
Long-chain polyphosphates impair SARS-CoV-2 infection and replicationVeronica Ferrucci, Dae-Young Kong, Fatemeh Asadzadeh, et al.HGG Advances|August 30, 2024
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome functionGiovanna Carpentieri, Serena Cecchetti, Gianfranco Bocchinfuso, et al.American Journal of Hematology|April 9, 2020
Outcome of patients with Fanconi anemia developing myelodysplasia and acute leukemia who received allogeneic hematopoietic stem cell transplantation: A retrospective analysis on behalf of EBMT groupStefano Giardino, Regis P de Latour, Mahmoud Aljurf, et al.American Journal of Medical Genetics. Part A|July 31, 2021
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literatureSulagna Tina Kushary, Anya Revah-Politi, Subit Barua, et al.Cytotherapy|May 12, 2025
Impact of mesenchymal stromal/stem cell infusions on circulating inflammatory biomarkers in COVID-19 patients: analysis of a phase I-IIa trialRoberto Tonelli, Francesca Pischiutta, Francesca Elice, et al.Blood Cells, Molecules & Diseases|June 18, 2024
Diagnosis and management of acquired aplastic anemia in childhood. Guidelines from the Marrow Failure Study Group of the Pediatric Haemato-Oncology Italian Association (AIEOP)A Guarina, P Farruggia, E Mariani, et al.Journal of Medical Genetics|June 29, 2021
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disabilityNatalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, et al.Nature Communications|February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological diseaseLindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.JACC. Advances|June 28, 2024
Transcatheter Ablation of Atrial Fibrillation in Patients With Hypertrophic Cardiomyopathy: A Multicenter Propensity Score-Based AnalysisAlessandro Pierri, Stefano Albani, Marco Merlo, et al.Clinical Genetics|May 11, 2023
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrumAlessandra Rossi, Lot Snijders Blok, Sonja Neuser, et al.Pageof 98